Generation of human iPS cell line IBCHi002-A from spinocerebellar ataxia type 3/Machado-Joseph disease patient's fibroblasts.
Sign Up to like & getrecommendations! Published in 2020 at "Stem cell research"
DOI: 10.1016/j.scr.2020.101796
Abstract: Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is autosomal-dominant neurodegenerative disease caused by an expansion of polyglutamine-encoding CAG repeats in the ATXN3 gene. Here we established IBCHi002-A induced pluripotent stem cells… read more here.
Keywords: ataxia type; patient fibroblasts; spinocerebellar ataxia; machado joseph ... See more keywords
Striatal neurons directly converted from Huntington’s disease patient fibroblasts recapitulate age-associated disease phenotypes
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DOI: 10.1038/s41593-018-0075-7
Abstract: In Huntington’s disease (HD), expansion of CAG codons in the huntingtin gene (HTT) leads to the aberrant formation of protein aggregates and the differential degeneration of striatal medium spiny neurons (MSNs). Modeling HD using patient-specific… read more here.
Keywords: patient fibroblasts; age; huntington disease; disease ... See more keywords
Quantifying Mitochondrial Dynamics in Patient Fibroblasts with Multiple Developmental Defects and Mitochondrial Disorders
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms22126263
Abstract: Mitochondria are dynamic organelles that undergo rounds of fission and fusion and exhibit a wide range of morphologies that contribute to the regulation of different signaling pathways and various cellular functions. It is important to… read more here.
Keywords: patient fibroblasts; dynamics patient; mitochondrial disorders; mitochondrial dynamics ... See more keywords